title: The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.
abstract: We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth, patients displayed hepatomegaly (92%), growth retardation (68%), delayed motor development (52%), hypercholesterolaemia (76%), hypertriglyceridaemia (70%), elevation of glutamate pyruvate transaminase (56%) and fasting hyperketosis (44%). With age, these clinical and biochemical abnormalities gradually disappeared and most adult patients were asymptomatic.
authors.affiliation: Department of Paediatrics, University Hospital Groningen, The Netherlands.
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: W J
authors.initials: WJ
authors.lastname: Gerver
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: J
authors.initials: J
authors.lastname: Fernandes
mesh_terms: D000375:Aging; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005500:Follow-Up Studies; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000503:physiopathology*; D006130:Growth Disorders / Q000201:enzymology; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000201:enzymology / Q000503:physiopathology*; D008137:Longitudinal Studies; D008297:Male; D009426:Netherlands; D010764:Phosphorylase Kinase / Q000172:deficiency*; D012189:Retrospective Studies
chemical_list: D010764:Phosphorylase Kinase